Detalhe da pesquisa
1.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet
; 110(3): 499-515, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36724785
2.
Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia.
J Pediatr Hematol Oncol
; 43(1): e138-e140, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31743320
3.
Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
J Med Genet
; 56(5): 308-316, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30819809
4.
Ataxia-telangiectasia: Immunodeficiency and survival.
Clin Immunol
; 178: 45-55, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28126470
5.
First international workshop of the ATM and cancer risk group (4-5 December 2019).
Fam Cancer
; 21(2): 211-227, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34125377
6.
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
Nat Commun
; 13(1): 6664, 2022 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36333305
7.
Classic ataxia-telangiectasia: the phenotype of long-term survivors.
J Neurol
; 267(3): 830-837, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31776720
8.
Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature.
Tremor Other Hyperkinet Mov (N Y)
; 92019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31656689
9.
Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.
Neurology
; 92(1): e19-e29, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30504431
10.
Ataxia telangiectasia mutated-deficient B-cell chronic lymphocytic leukemia occurs in pregerminal center cells and results in defective damage response and unrepaired chromosome damage.
Blood
; 99(1): 300-9, 2002 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11756185